Variant report

Variant	esv2508562
Chromosome Location	chr12:55975561-55977015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370337861	chr12:55975569-55975570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563181224	chr12:55975592-55975593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12299176	chr12:55975613-55975614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544004842	chr12:55975637-55975638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111719309	chr12:55975639-55975640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368335707	chr12:55975657-55975658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532487016	chr12:55975659-55975660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9668674	chr12:55975665-55975666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7138577	chr12:55975672-55975673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564178518	chr12:55975727-55975728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530061010	chr12:55975728-55975729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548190750	chr12:55975730-55975731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77658576	chr12:55975740-55975741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541104621	chr12:55975762-55975763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143444218	chr12:55975782-55975783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564361096	chr12:55975788-55975789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555924081	chr12:55975795-55975796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571459896	chr12:55975811-55975812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538351671	chr12:55975839-55975840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12313844	chr12:55975841-55975842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373438783	chr12:55975848-55975849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181003579	chr12:55975867-55975868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542612248	chr12:55975888-55975889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554626811	chr12:55975911-55975912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576788110	chr12:55975913-55975914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544165739	chr12:55975929-55975930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10783760	chr12:55975963-55975964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs73114934	chr12:55975987-55975988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368832595	chr12:55976011-55976012	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564252919	chr12:55976038-55976039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs116759250	chr12:55976057-55976058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559762916	chr12:55976080-55976081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs535312186	chr12:55976082-55976083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548154647	chr12:55976106-55976107	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs145195982	chr12:55976123-55976124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs563373000	chr12:55976165-55976166	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs147990261	chr12:55976183-55976184	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:55974400-55976000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:55976000-55976200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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